Canonical Allele Identifier: CA344035393

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446798C>T (hg19) ; chr1:g.197477668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477668C>T , CM000663.2:g.197477668C>T	GRCh38
NC_000001.10:g.197446798C>T , CM000663.1:g.197446798C>T	GRCh37
NC_000001.9:g.195713421C>T	NCBI36
NG_008483.1:g.214391C>T
NG_008483.2:g.281207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4010C>T MANE Select	ENSP00000356370.3:p.Ala1337Val
ENST00000367399.6:c.3674C>T	ENSP00000356369.2:p.Ala1225Val
ENST00000367400.7:c.4010C>T	ENSP00000356370.3:p.Ala1337Val
ENST00000448952.1:c.244C>T	ENSP00000395407.1:n.244C>T
ENST00000484075.5:c.*121C>T	ENSP00000433932.1:n.*121C>T
ENST00000535699.5:c.3938C>T	ENSP00000438786.1:p.Ala1313Val
ENST00000538660.5:c.2402C>T	ENSP00000438091.1:p.Ala801Val
NM_001193640.1:c.3674C>T	NP_001180569.1:p.Ala1225Val
NM_001257965.1:c.3938C>T	NP_001244894.1:p.Ala1313Val
NM_001257966.1:c.2402C>T	NP_001244895.1:p.Ala801Val
NM_201253.2:c.4010C>T	NP_957705.1:p.Ala1337Val
NR_047563.1:n.4011C>T
NR_047564.1:n.4461C>T
XM_011509366.1:c.*115C>T	XP_011507668.1:n.*115C>T
XM_011509367.1:c.3883C>T	XP_011507669.1:p.Gln1295Ter
XM_011509368.1:c.3428C>T	XP_011507670.1:p.Ala1143Val
XM_011509369.1:c.2453C>T	XP_011507671.1:p.Ala818Val
XM_011509369.2:c.2453C>T	XP_011507671.1:p.Ala818Val
XM_017000851.1:c.3167C>T	XP_016856340.1:p.Ala1056Val
XM_017000852.1:c.4145C>T	XP_016856341.1:p.Ala1382Val
NM_201253.3:c.4010C>T MANE Select	NP_957705.1:p.Ala1337Val
NM_001193640.2:c.3674C>T	NP_001180569.1:p.Ala1225Val
NM_001257965.2:c.3938C>T	NP_001244894.1:p.Ala1313Val
NR_047563.2:n.3963C>T
NR_047564.2:n.4413C>T
NM_001257966.2:c.2402C>T	NP_001244895.1:p.Ala801Val